Canonical Allele Identifier: CA24590756

Gene: SLC44A5

Linked Data

• dbSNP Id: rs989226004
• gnomAD v3: 1-75641052-C-A
• gnomAD v4: 1-75641052-C-A
• MyVariant Identifiers: chr1:g.76106737C>A (hg19) ; chr1:g.75641052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75641052C>A , CM000663.2:g.75641052C>A	GRCh38
NC_000001.10:g.76106737C>A , CM000663.1:g.76106737C>A	GRCh37
NC_000001.9:g.75879325C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011540981.1:c.-74+67973G>T	XP_011539283.1:n.-74+67973G>T
XM_011540982.1:c.-74+1321G>T	XP_011539284.1:n.-74+1321G>T
XM_011540984.1:c.-70+1321G>T	XP_011539286.1:n.-70+1321G>T
XM_017000609.1:c.-70+1321G>T	XP_016856098.1:n.-70+1321G>T
XM_017000610.1:c.-70+1321G>T	XP_016856099.1:n.-70+1321G>T