Canonical Allele Identifier: CA358355255

Gene: MMAA

Linked Data

• ClinVar Variation Id: 553872
• ClinVar RCV Id: RCV000669403
• dbSNP Id: rs869320656
• MyVariant Identifiers: chr4:g.146563638G>T (hg19) ; chr4:g.145642486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145642486G>T , CM000666.2:g.145642486G>T	GRCh38
NC_000004.11:g.146563638G>T , CM000666.1:g.146563638G>T	GRCh37
NC_000004.10:g.146783088G>T	NCBI36
NG_007536.1:g.28189G>T
NG_007536.2:g.48445G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.562+1G>T	ENSP00000442284.3:n.562+1G>T
ENST00000647947.1:c.*346+1G>T	ENSP00000496781.1:n.*346+1G>T
ENST00000648388.1:c.562+1G>T	ENSP00000497046.1:n.562+1G>T
ENST00000649156.2:c.562+1G>T MANE Select	ENSP00000497008.1:n.562+1G>T
ENST00000649173.1:c.562+1G>T	ENSP00000497871.1:n.562+1G>T
ENST00000649704.1:c.562+1G>T	ENSP00000497680.1:n.562+1G>T
ENST00000679563.1:c.562+1G>T	ENSP00000506503.1:n.562+1G>T
ENST00000679930.1:c.*81+1G>T	ENSP00000506293.1:n.*81+1G>T
ENST00000281317.9:c.562+1G>T	ENSP00000281317.5:n.562+1G>T
ENST00000506919.1:n.1050+1G>T
ENST00000511969.4:c.562+1G>T	ENSP00000427422.1:n.562+1G>T
ENST00000541599.4:c.562+1G>T	ENSP00000442284.2:n.562+1G>T
NM_172250.2:c.562+1G>T	NP_758454.1:n.562+1G>T
XM_011531684.1:c.562+1G>T	XP_011529986.1:n.562+1G>T
XM_011531685.1:c.562+1G>T	XP_011529987.1:n.562+1G>T
XM_011531686.1:c.67+1G>T	XP_011529988.1:n.67+1G>T
NM_172250.3:c.562+1G>T MANE Select	NP_758454.1:n.562+1G>T
XM_011531684.3:c.562+1G>T	XP_011529986.1:n.562+1G>T
XM_011531685.2:c.562+1G>T	XP_011529987.1:n.562+1G>T
XM_011531686.2:c.67+1G>T	XP_011529988.1:n.67+1G>T
NM_001375644.1:c.562+1G>T	NP_001362573.1:n.562+1G>T