Canonical Allele Identifier: CA1040451246

Gene: SLC40A1

Linked Data

• dbSNP Id: rs2031247622
• gnomAD v3: 2-189575109-C-G
• gnomAD v4: 2-189575109-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575109C>G , CM000664.2:g.189575109C>G	GRCh38
NC_000002.11:g.190439835C>G , CM000664.1:g.190439835C>G	GRCh37
NC_000002.10:g.190148080C>G	NCBI36
NG_009027.1:g.10703G>C , LRG_837:g.10703G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.271+52G>C MANE Select	ENSP00000261024.3:n.271+52G>C
ENST00000261024.6:c.271+52G>C	ENSP00000261024.2:n.271+52G>C
ENST00000427241.5:c.271+52G>C	ENSP00000390005.1:n.271+52G>C
ENST00000479598.5:n.552+52G>C
NM_014585.5:c.271+52G>C , LRG_837t1:c.271+52G>C	NP_055400.1:n.271+52G>C
XM_005246505.1:c.151+52G>C	XP_005246562.1:n.151+52G>C
XM_005246505.2:c.151+52G>C	XP_005246562.1:n.151+52G>C
XM_017003938.2:c.151+52G>C	XP_016859427.1:n.151+52G>C
NM_014585.6:c.271+52G>C MANE Select	NP_055400.1:n.271+52G>C