Canonical Allele Identifier: CA348611649

Gene: GYPC

Linked Data

• dbSNP Id: rs121912761
• gnomAD v2: 2-127413879-C-A
• gnomAD v4: 2-126656303-C-A
• MyVariant Identifiers: chr2:g.127413879C>A (hg19) ; chr2:g.126656303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.126656303C>A , CM000664.2:g.126656303C>A	GRCh38
NC_000002.11:g.127413879C>A , CM000664.1:g.127413879C>A	GRCh37
NC_000002.10:g.127130349C>A	NCBI36
NG_007479.1:g.5196C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000259254.9:c.40C>A MANE Select	ENSP00000259254.4:p.Leu14Ile
ENST00000356887.12:c.-842C>A	ENSP00000349354.7:n.-842C>A
ENST00000484700.2:n.171C>A
ENST00000259254.8:c.40C>A	ENSP00000259254.4:p.Leu14Ile
ENST00000356887.11:c.-842C>A	ENSP00000349354.7:n.-842C>A
ENST00000409836.3:c.40C>A	ENSP00000386904.3:p.Leu14Ile
ENST00000459787.1:n.162C>A
ENST00000464053.1:n.115C>A
ENST00000484700.1:n.171C>A
NM_001256584.1:c.-842C>A	NP_001243513.1:n.-842C>A
NM_002101.4:c.40C>A	NP_002092.1:p.Leu14Ile
NM_016815.3:c.40C>A	NP_058131.1:p.Leu14Ile
NM_002101.5:c.40C>A MANE Select	NP_002092.1:p.Leu14Ile
NM_001256584.2:c.-842C>A	NP_001243513.1:n.-842C>A
NM_016815.4:c.40C>A	NP_058131.1:p.Leu14Ile