Canonical Allele Identifier: CA572183650

Gene: AMZ1

Linked Data

• dbSNP Id: rs1365442790
• gnomAD v2: 7-2763293-C-T
• gnomAD v3: 7-2723659-C-T
• gnomAD v4: 7-2723659-C-T
• MyVariant Identifiers: chr7:g.2763293C>T (hg19) ; chr7:g.2723659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723659C>T , CM000669.2:g.2723659C>T	GRCh38
NC_000007.13:g.2763293C>T , CM000669.1:g.2763293C>T	GRCh37
NC_000007.12:g.2729819C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13843C>T
XM_011515151.1:c.778+13843C>T	XP_011513453.1:n.778+13843C>T
NM_001321766.1:c.948+13843C>T	NP_001308695.1:n.948+13843C>T
XM_011515151.3:c.778+13843C>T	XP_011513453.1:n.778+13843C>T
XM_017011774.2:c.778+13843C>T	XP_016867263.1:n.778+13843C>T
NM_001321766.2:c.948+13843C>T	NP_001308695.1:n.948+13843C>T
NM_001384740.1:c.948+13843C>T	NP_001371669.1:n.948+13843C>T
NM_001384741.1:c.779-7362C>T	NP_001371670.1:n.779-7362C>T
NM_001384742.1:c.779-822C>T	NP_001371671.1:n.779-822C>T