Canonical Allele Identifier: CA265662527

Gene: SLC24A4

Linked Data

• dbSNP Id: rs1024612637
• gnomAD v3: 14-92467683-G-T
• gnomAD v4: 14-92467683-G-T
• MyVariant Identifiers: chr14:g.92934027G>T (hg19) ; chr14:g.92467683G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92467683G>T , CM000676.2:g.92467683G>T	GRCh38
NC_000014.8:g.92934027G>T , CM000676.1:g.92934027G>T	GRCh37
NC_000014.7:g.92003780G>T	NCBI36
NG_023408.1:g.150103G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000532405.6:c.1255+11075G>T MANE Select	ENSP00000431840.1:n.1255+11075G>T
ENST00000676001.1:c.1255+11075G>T	ENSP00000502715.1:n.1255+11075G>T
ENST00000393265.6:c.1063+11075G>T	ENSP00000376948.2:n.1063+11075G>T
ENST00000525557.5:c.851+11075G>T
ENST00000526482.1:n.1509+11075G>T
ENST00000531433.5:c.1198+11075G>T	ENSP00000433302.1:n.1198+11075G>T
ENST00000532405.5:c.1255+11075G>T	ENSP00000431840.1:n.1255+11075G>T
ENST00000554925.5:n.708+11075G>T
NM_153646.3:c.1255+11075G>T	NP_705932.2:n.1255+11075G>T
NM_153647.3:c.1198+11075G>T	NP_705933.2:n.1198+11075G>T
NM_153648.3:c.1063+11075G>T	NP_705934.1:n.1063+11075G>T
XM_005267342.1:c.811+11075G>T	XP_005267399.1:n.811+11075G>T
XM_011536436.1:c.1396+11075G>T	XP_011534738.1:n.1396+11075G>T
XM_011536437.1:c.1339+11075G>T	XP_011534739.1:n.1339+11075G>T
XM_011536438.1:c.1396+11075G>T	XP_011534740.1:n.1396+11075G>T
XM_011536439.1:c.1339+11075G>T	XP_011534741.1:n.1339+11075G>T
XM_011536440.1:c.505+11075G>T	XP_011534742.1:n.505+11075G>T
XM_011536441.1:c.337+11075G>T	XP_011534743.1:n.337+11075G>T
XM_011536442.1:c.337+11075G>T	XP_011534744.1:n.337+11075G>T
XM_005267342.2:c.811+11075G>T	XP_005267399.1:n.811+11075G>T
XM_011536436.2:c.1396+11075G>T	XP_011534738.1:n.1396+11075G>T
XM_011536437.2:c.1339+11075G>T	XP_011534739.1:n.1339+11075G>T
XM_011536438.2:c.1396+11075G>T	XP_011534740.1:n.1396+11075G>T
XM_011536439.2:c.1339+11075G>T	XP_011534741.1:n.1339+11075G>T
XM_011536440.2:c.505+11075G>T	XP_011534742.1:n.505+11075G>T
XM_024449478.1:c.1198+11075G>T	XP_024305246.1:n.1198+11075G>T
NM_153647.4:c.1198+11075G>T	NP_705933.2:n.1198+11075G>T
NM_001378620.1:c.1255+11075G>T	NP_001365549.1:n.1255+11075G>T
NM_153646.4:c.1255+11075G>T MANE Select	NP_705932.2:n.1255+11075G>T
NM_153648.4:c.1063+11075G>T	NP_705934.1:n.1063+11075G>T