Canonical Allele Identifier: CA8560757

Gene: KRT13

Linked Data

• ClinVar Variation Id: 323098
• ClinVar RCV Id: RCV000338433 ; RCV001357960 ; RCV002522953
• dbSNP Id: rs148102980
• ExAC: 17:39659964 G / C
• gnomAD v2: 17-39659964-G-C
• gnomAD v3: 17-41503712-G-C
• gnomAD v4: 17-41503712-G-C
• MyVariant Identifiers: chr17:g.39659964G>C (hg19) ; chr17:g.41503712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41503712G>C , CM000679.2:g.41503712G>C	GRCh38
NC_000017.10:g.39659964G>C , CM000679.1:g.39659964G>C	GRCh37
NC_000017.9:g.36913490G>C	NCBI36
NG_008406.1:g.6902C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246635.8:c.509C>G MANE Select	ENSP00000246635.3:p.Thr170Ser
ENST00000246635.7:c.509C>G	ENSP00000246635.3:p.Thr170Ser
ENST00000336861.7:c.509C>G	ENSP00000336604.3:p.Thr170Ser
ENST00000464634.2:c.*106C>G	ENSP00000466525.1:n.*106C>G
ENST00000468313.5:n.345C>G
ENST00000587118.1:n.526C>G
ENST00000587435.1:c.400-369C>G	ENSP00000467833.1:n.400-369C>G
ENST00000587544.5:c.509C>G	ENSP00000468221.1:p.Thr170Ser
ENST00000590425.1:c.188C>G	ENSP00000466465.1:p.Thr63Ser
NM_002274.3:c.509C>G	NP_002265.2:p.Thr170Ser
NM_153490.2:c.509C>G	NP_705694.2:p.Thr170Ser
NM_153490.3:c.509C>G MANE Select	NP_705694.3:p.Thr170Ser
NM_002274.4:c.509C>G	NP_002265.3:p.Thr170Ser