Canonical Allele Identifier: CA378067078
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs147631156
gnomAD v2: 10-105797396-C-A
gnomAD v4: 10-104037638-C-A
MyVariant Identifiers: chr10:g.105797396C>A (hg19) chr10:g.104037638C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037638C>A , CM000672.2:g.104037638C>A GRCh38
NC_000010.10:g.105797396C>A , CM000672.1:g.105797396C>A GRCh37
NC_000010.9:g.105787386C>A NCBI36
NG_007069.1:g.53243G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3071G>T ENSP00000358748.3:p.Arg1024Leu
ENST00000648076.2:c.3206G>T MANE Select ENSP00000497653.1:p.Arg1069Leu
ENST00000353479.9:c.3206G>T ENSP00000340937.5:p.Arg1069Leu
ENST00000369733.7:c.3071G>T ENSP00000358748.3:p.Arg1024Leu
NM_000494.3:c.3206G>T NP_000485.3:p.Arg1069Leu
NM_000494.4:c.3206G>T MANE Select NP_000485.3:p.Arg1069Leu
Search 100 bp 5'
Search 100 bp 3'