Canonical Allele Identifier: CA221585056

Gene: SLC35C1

Linked Data

• dbSNP Id: rs924815337
• gnomAD v3: 11-45805966-G-A
• gnomAD v4: 11-45805966-G-A
• MyVariant Identifiers: chr11:g.45827517G>A (hg19) ; chr11:g.45805966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45805966G>A , CM000673.2:g.45805966G>A	GRCh38
NC_000011.9:g.45827517G>A , CM000673.1:g.45827517G>A	GRCh37
NC_000011.8:g.45784093G>A	NCBI36
NG_009875.1:g.6895G>A , LRG_107:g.6895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.126G>A	ENSP00000432145.2:p.Met42Ile
ENST00000314134.4:c.165G>A MANE Select	ENSP00000313318.3:p.Met55Ile
ENST00000314134.3:c.165G>A	ENSP00000313318.3:p.Met55Ile
ENST00000442528.2:c.126G>A	ENSP00000412408.2:p.Met42Ile
ENST00000526817.1:c.126G>A	ENSP00000432145.1:p.Met42Ile
ENST00000530471.1:c.126G>A	ENSP00000432669.1:p.Met42Ile
NM_001145265.1:c.126G>A	NP_001138737.1:p.Met42Ile
NM_001145266.1:c.126G>A	NP_001138738.1:p.Met42Ile
NM_018389.4:c.165G>A , LRG_107t1:c.165G>A	NP_060859.4:p.Met55Ile
XM_011520203.1:c.165G>A	XP_011518505.1:p.Met55Ile
XM_011520203.3:c.165G>A	XP_011518505.1:p.Met55Ile
NM_001145265.2:c.126G>A	NP_001138737.1:p.Met42Ile
NM_018389.5:c.165G>A MANE Select	NP_060859.4:p.Met55Ile