Canonical Allele Identifier: CA384919094

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs1306358743
• gnomAD v3: 12-52306180-G-A
• gnomAD v4: 12-52306180-G-A
• MyVariant Identifiers: chr12:g.52699964G>A (hg19) ; chr12:g.52306180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306180G>A , CM000674.2:g.52306180G>A	GRCh38
NC_000012.11:g.52699964G>A , CM000674.1:g.52699964G>A	GRCh37
NC_000012.10:g.50986231G>A	NCBI36
NG_008086.1:g.9316G>A
NG_008086.2:g.36536G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423955.7:c.1147G>A (KRT86) MANE Select	ENSP00000444533.1:p.Ala383Thr
ENST00000293525.5:c.1147G>A (KRT86)	ENSP00000293525.5:p.Ala383Thr
ENST00000423955.6:c.1147G>A (KRT86)	ENSP00000444533.1:p.Ala383Thr
NM_002284.3:c.1147G>A (KRT86)	NP_002275.1:p.Ala383Thr
XM_005268866.3:c.1378G>A (KRT86)	XP_005268923.1:p.Ala460Thr
XM_011538334.1:c.-212+2031C>T (KRT81)	XP_011536636.1:n.-212+2031C>T
XM_011538336.1:c.1147G>A (KRT86)	XP_011536638.1:p.Ala383Thr
XM_011538337.1:c.1147G>A (KRT86)	XP_011536639.1:p.Ala383Thr
XM_011538338.1:c.1147G>A (KRT86)	XP_011536640.1:p.Ala383Thr
NM_001320198.1:c.1147G>A (KRT86)	NP_001307127.1:p.Ala383Thr
XM_005268866.4:c.1378G>A (KRT86)	XP_005268923.1:p.Ala460Thr
XM_017019296.1:c.1147G>A (KRT86)	XP_016874785.1:p.Ala383Thr
NM_001320198.2:c.1147G>A (KRT86) MANE Select	NP_001307127.1:p.Ala383Thr