Canonical Allele Identifier: CA378065919
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1376972422
gnomAD v2: 10-105794388-A-G
gnomAD v4: 10-104034630-A-G
MyVariant Identifiers: chr10:g.105794388A>G (hg19) chr10:g.104034630A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034630A>G , CM000672.2:g.104034630A>G GRCh38
NC_000010.10:g.105794388A>G , CM000672.1:g.105794388A>G GRCh37
NC_000010.9:g.105784378A>G NCBI36
NG_007069.1:g.56251T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3511T>C ENSP00000358748.3:p.Tyr1171His
ENST00000648076.2:c.3757T>C MANE Select ENSP00000497653.1:p.Tyr1253His
ENST00000353479.9:c.3757T>C ENSP00000340937.5:p.Tyr1253His
ENST00000369733.7:c.3511T>C ENSP00000358748.3:p.Tyr1171His
NM_000494.3:c.3757T>C NP_000485.3:p.Tyr1253His
NM_000494.4:c.3757T>C MANE Select NP_000485.3:p.Tyr1253His
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