Canonical Allele Identifier: CA595673876
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1487535614
gnomAD v2: 10-105797575-G-A
gnomAD v4: 10-104037817-G-A
MyVariant Identifiers: chr10:g.105797575G>A (hg19) chr10:g.104037817G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037817G>A , CM000672.2:g.104037817G>A GRCh38
NC_000010.10:g.105797575G>A , CM000672.1:g.105797575G>A GRCh37
NC_000010.9:g.105787565G>A NCBI36
NG_007069.1:g.53064C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2936-44C>T ENSP00000358748.3:n.2936-44C>T
ENST00000648076.2:c.3071-44C>T MANE Select ENSP00000497653.1:n.3071-44C>T
ENST00000353479.9:c.3071-44C>T ENSP00000340937.5:n.3071-44C>T
ENST00000369733.7:c.2936-44C>T ENSP00000358748.3:n.2936-44C>T
NM_000494.3:c.3071-44C>T NP_000485.3:n.3071-44C>T
NM_000494.4:c.3071-44C>T MANE Select NP_000485.3:n.3071-44C>T
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