Canonical Allele Identifier: CA24590734

Gene: SLC44A5

Linked Data

• dbSNP Id: rs1051681973
• gnomAD v3: 1-75640992-A-G
• gnomAD v4: 1-75640992-A-G
• MyVariant Identifiers: chr1:g.76106677A>G (hg19) ; chr1:g.75640992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75640992A>G , CM000663.2:g.75640992A>G	GRCh38
NC_000001.10:g.76106677A>G , CM000663.1:g.76106677A>G	GRCh37
NC_000001.9:g.75879265A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011540981.1:c.-74+68033T>C	XP_011539283.1:n.-74+68033T>C
XM_011540982.1:c.-74+1381T>C	XP_011539284.1:n.-74+1381T>C
XM_011540984.1:c.-70+1381T>C	XP_011539286.1:n.-70+1381T>C
XM_017000609.1:c.-70+1381T>C	XP_016856098.1:n.-70+1381T>C
XM_017000610.1:c.-70+1381T>C	XP_016856099.1:n.-70+1381T>C