Canonical Allele Identifier: CA605081598
Gene: KRT74 HGNC NCBI

Linked Data

dbSNP Id: rs745544302
gnomAD v2: 12-52965097-T-C
gnomAD v3: 12-52571313-T-C
gnomAD v4: 12-52571313-T-C
MyVariant Identifiers: chr12:g.52965097T>C (hg19) chr12:g.52571313T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52571313T>C , CM000674.2:g.52571313T>C GRCh38
NC_000012.11:g.52965097T>C , CM000674.1:g.52965097T>C GRCh37
NC_000012.10:g.51251364T>C NCBI36
NG_012321.1:g.7513A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305620.3:c.843+46A>G MANE Select ENSP00000307240.2:n.843+46A>G
ENST00000305620.2:c.843+46A>G ENSP00000307240.2:n.843+46A>G
ENST00000549343.5:c.843+46A>G ENSP00000447447.1:n.843+46A>G
NM_175053.3:c.843+46A>G NP_778223.2:n.843+46A>G
XM_011537902.1:c.843+46A>G XP_011536204.1:n.843+46A>G
NM_175053.4:c.843+46A>G MANE Select NP_778223.2:n.843+46A>G
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