Canonical Allele Identifier: CA216518

Gene: KRT12

Linked Data

• ClinVar Variation Id: 66128
• ClinVar RCV Id: RCV000056428 ; RCV001730494
• dbSNP Id: rs11650915
• ExAC: 17:39023396 G / A
• gnomAD v2: 17-39023396-G-A
• gnomAD v3: 17-40867144-G-A
• gnomAD v4: 17-40867144-G-A
• MyVariant Identifiers: chr17:g.39023396G>A (hg19) ; chr17:g.40867144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40867144G>A , CM000679.2:g.40867144G>A	GRCh38
NC_000017.10:g.39023396G>A , CM000679.1:g.39023396G>A	GRCh37
NC_000017.9:g.36276922G>A	NCBI36
NG_008077.1:g.5067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251643.5:c.43C>T MANE Select	ENSP00000251643.4:p.Pro15Ser
ENST00000647902.1:c.43C>T	ENSP00000497770.1:p.Pro15Ser
ENST00000251643.4:c.43C>T	ENSP00000251643.4:p.Pro15Ser
NM_000223.3:c.43C>T	NP_000214.1:p.Pro15Ser
XR_934754.1:n.1500+16284G>A
XR_934754.2:n.2008+16284G>A
NM_000223.4:c.43C>T MANE Select	NP_000214.1:p.Pro15Ser