Canonical Allele Identifier: CA8563774

Gene: KRT17

Linked Data

• dbSNP Id: rs541698783
• ExAC: 17:39780380 C / T
• gnomAD v2: 17-39780380-C-T
• gnomAD v3: 17-41624128-C-T
• gnomAD v4: 17-41624128-C-T
• MyVariant Identifiers: chr17:g.39780380C>T (hg19) ; chr17:g.41624128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624128C>T , CM000679.2:g.41624128C>T	GRCh38
NC_000017.10:g.39780380C>T , CM000679.1:g.39780380C>T	GRCh37
NC_000017.9:g.37033906C>T	NCBI36
NG_008625.1:g.5503G>A
NG_009090.2:g.167585G>A , LRG_401:g.167585G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311208.13:c.382G>A MANE Select	ENSP00000308452.8:p.Ala128Thr
ENST00000311208.12:c.382G>A	ENSP00000308452.8:p.Ala128Thr
ENST00000463128.5:c.-234G>A	ENSP00000468672.1:n.-234G>A
ENST00000491673.1:n.448G>A
ENST00000493253.5:n.169G>A
ENST00000540235.5:c.133G>A	ENSP00000441751.2:p.Ala45Thr
ENST00000577817.3:c.337G>A	ENSP00000467418.1:p.Ala113Thr
NM_000422.2:c.382G>A	NP_000413.1:p.Ala128Thr
NM_000422.3:c.382G>A MANE Select	NP_000413.1:p.Ala128Thr