Canonical Allele Identifier: CA477217394

Gene: SC5D

Linked Data

• gnomAD v4: 11-121303513-T-C
• MyVariant Identifiers: chr11:g.121174222T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303513T>C , CM000673.2:g.121303513T>C	GRCh38
NC_000011.9:g.121174222T>C , CM000673.1:g.121174222T>C	GRCh37
NC_000011.8:g.120679432T>C	NCBI36
NG_009446.1:g.15835T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264027.9:c.138T>C MANE Select	ENSP00000264027.4:p.Tyr46=
ENST00000264027.8:c.138T>C	ENSP00000264027.4:p.Tyr46=
ENST00000392789.2:c.138T>C	ENSP00000376539.2:p.Tyr46=
ENST00000524683.5:n.194T>C
ENST00000527762.5:c.138T>C	ENSP00000436290.1:p.Tyr46=
ENST00000531140.1:n.206T>C
ENST00000534230.5:c.138T>C	ENSP00000432550.1:p.Tyr46=
ENST00000534455.5:n.284T>C
NM_001024956.2:c.138T>C	NP_001020127.1:p.Tyr46=
NM_006918.4:c.138T>C	NP_008849.2:p.Tyr46=
NM_006918.5:c.138T>C MANE Select	NP_008849.2:p.Tyr46=
NM_001024956.3:c.138T>C	NP_001020127.1:p.Tyr46=