Canonical Allele Identifier: CA559865826

Gene: MAST4

Linked Data

• dbSNP Id: rs1041443856
• gnomAD v2: 5-66452112-A-T
• gnomAD v3: 5-67156284-A-T
• gnomAD v4: 5-67156284-A-T
• MyVariant Identifiers: chr5:g.66452112A>T (hg19) ; chr5:g.67156284A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.67156284A>T , CM000667.2:g.67156284A>T	GRCh38
NC_000005.9:g.66452112A>T , CM000667.1:g.66452112A>T	GRCh37
NC_000005.8:g.66487868A>T	NCBI36
NG_034036.1:g.564937A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403625.7:c.3648+2704A>T MANE Select	ENSP00000385727.1:n.3648+2704A>T
ENST00000261569.11:c.3066+2704A>T	ENSP00000261569.7:n.3066+2704A>T
ENST00000403625.6:c.3648+2704A>T	ENSP00000385727.1:n.3648+2704A>T
ENST00000403666.5:c.3081+2704A>T	ENSP00000384313.1:n.3081+2704A>T
ENST00000405643.5:c.3111+2704A>T	ENSP00000384099.1:n.3111+2704A>T
ENST00000443808.1:c.817+2704A>T
NM_001164664.1:c.3648+2704A>T	NP_001158136.1:n.3648+2704A>T
NM_001290226.1:c.3030+2704A>T	NP_001277155.1:n.3030+2704A>T
NM_001290227.1:c.2865+2704A>T	NP_001277156.1:n.2865+2704A>T
NM_001297651.1:c.3066+2704A>T	NP_001284580.1:n.3066+2704A>T
NM_015183.2:c.3081+2704A>T	NP_055998.1:n.3081+2704A>T
XM_006714606.2:c.3066+2704A>T	XP_006714669.1:n.3066+2704A>T
XM_006714610.1:c.2865+2704A>T	XP_006714673.1:n.2865+2704A>T
XM_011543381.1:c.3945+2704A>T	XP_011541683.1:n.3945+2704A>T
XM_011543382.1:c.3759+2704A>T	XP_011541684.1:n.3759+2704A>T
XM_011543383.1:c.3684+2704A>T	XP_011541685.1:n.3684+2704A>T
XM_011543384.1:c.3048+2704A>T	XP_011541686.1:n.3048+2704A>T
XM_011543385.1:c.3021+2704A>T	XP_011541687.1:n.3021+2704A>T
XM_011543386.1:c.3012+2704A>T	XP_011541688.1:n.3012+2704A>T
XM_006714606.3:c.3066+2704A>T	XP_006714669.1:n.3066+2704A>T
XM_006714610.2:c.2865+2704A>T	XP_006714673.1:n.2865+2704A>T
XM_011543384.2:c.3048+2704A>T	XP_011541686.1:n.3048+2704A>T
XM_011543385.3:c.3021+2704A>T	XP_011541687.1:n.3021+2704A>T
XM_011543386.2:c.3012+2704A>T	XP_011541688.1:n.3012+2704A>T
XM_017009449.1:c.3102+2704A>T	XP_016864938.1:n.3102+2704A>T
XM_017009450.1:c.3045+2704A>T	XP_016864939.1:n.3045+2704A>T
XM_017009451.1:c.2844+2704A>T	XP_016864940.1:n.2844+2704A>T
XM_017009452.1:c.2604+2704A>T	XP_016864941.1:n.2604+2704A>T
XM_017009453.1:c.2604+2704A>T	XP_016864942.1:n.2604+2704A>T
XM_024446044.1:c.3864+2704A>T	XP_024301812.1:n.3864+2704A>T
NM_001164664.2:c.3648+2704A>T MANE Select	NP_001158136.1:n.3648+2704A>T
NM_001290226.2:c.3030+2704A>T	NP_001277155.1:n.3030+2704A>T
NM_001290227.2:c.2865+2704A>T	NP_001277156.1:n.2865+2704A>T
NM_001297651.2:c.3066+2704A>T	NP_001284580.1:n.3066+2704A>T
NM_015183.3:c.3081+2704A>T	NP_055998.1:n.3081+2704A>T
NM_001393524.1:c.3657+2704A>T	NP_001380453.1:n.3657+2704A>T
NM_001393525.1:c.3447+2704A>T	NP_001380454.1:n.3447+2704A>T
NM_001393526.1:c.2880+2704A>T	NP_001380455.1:n.2880+2704A>T
NM_001393527.1:c.2865+2704A>T	NP_001380456.1:n.2865+2704A>T
NM_001393528.1:c.2844+2704A>T	NP_001380457.1:n.2844+2704A>T