Canonical Allele Identifier: CA399513940

Gene: KRT17

Linked Data

• gnomAD v4: 17-41624481-G-A
• MyVariant Identifiers: chr17:g.39780733G>A (hg19) ; chr17:g.41624481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624481G>A , CM000679.2:g.41624481G>A	GRCh38
NC_000017.10:g.39780733G>A , CM000679.1:g.39780733G>A	GRCh37
NC_000017.9:g.37034259G>A	NCBI36
NG_008625.1:g.5150C>T
NG_009090.2:g.167232C>T , LRG_401:g.167232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311208.13:c.29C>T MANE Select	ENSP00000308452.8:p.Ser10Phe
ENST00000311208.12:c.29C>T	ENSP00000308452.8:p.Ser10Phe
ENST00000463128.5:c.-313+262C>T	ENSP00000468672.1:n.-313+262C>T
ENST00000491673.1:n.95C>T
ENST00000540235.5:c.-177C>T	ENSP00000441751.2:n.-177C>T
NM_000422.2:c.29C>T	NP_000413.1:p.Ser10Phe
NM_000422.3:c.29C>T MANE Select	NP_000413.1:p.Ser10Phe