Canonical Allele Identifier: CA2024274

Gene: SLC40A1

Linked Data

• dbSNP Id: rs777788694
• ExAC: 2:190439862 G / C
• gnomAD v2: 2-190439862-G-C
• gnomAD v4: 2-189575136-G-C
• MyVariant Identifiers: chr2:g.190439862G>C (hg19) ; chr2:g.189575136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575136G>C , CM000664.2:g.189575136G>C	GRCh38
NC_000002.11:g.190439862G>C , CM000664.1:g.190439862G>C	GRCh37
NC_000002.10:g.190148107G>C	NCBI36
NG_009027.1:g.10676C>G , LRG_837:g.10676C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.271+25C>G MANE Select	ENSP00000261024.3:n.271+25C>G
ENST00000261024.6:c.271+25C>G	ENSP00000261024.2:n.271+25C>G
ENST00000427241.5:c.271+25C>G	ENSP00000390005.1:n.271+25C>G
ENST00000479598.5:n.552+25C>G
NM_014585.5:c.271+25C>G , LRG_837t1:c.271+25C>G	NP_055400.1:n.271+25C>G
XM_005246505.1:c.151+25C>G	XP_005246562.1:n.151+25C>G
XM_005246505.2:c.151+25C>G	XP_005246562.1:n.151+25C>G
XM_017003938.2:c.151+25C>G	XP_016859427.1:n.151+25C>G
NM_014585.6:c.271+25C>G MANE Select	NP_055400.1:n.271+25C>G